These are known as missense mutations, and scientists have estimated ... but there are MECP2 mutations that do not seem to destabilize the protein, for example. However, those mutations are altering ...

The second pair, HumVar 3, consists of all the 13,032 human disease-causing mutations from UniProt and 8,946 human nonsynonymous single-nucleotide polymorphisms (nsSNPs) without annotated ...

Rather than causing instability, some missense mutations led to different changes in proteins. For example, some of the mutations behind Rett syndrome, a rare neurodevelopmental disorder ...

The work helps explain why minimal changes in the human genome, also known as missense mutations ... looked at some disease-causing mutations more closely. For example, beta-gamma crystallins ...

A new mega-database of half a million mutations may flag new ways of treating genetic disease, scientists say.